Incidental Mutation 'IGL02148:Ddx59'
ID281859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx59
Ensembl Gene ENSMUSG00000026404
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 59
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02148
Quality Score
Status
Chromosome1
Chromosomal Location136415271-136440158 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 136433827 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 477 (S477P)
Ref Sequence ENSEMBL: ENSMUSP00000027655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027655]
Predicted Effect probably damaging
Transcript: ENSMUST00000027655
AA Change: S477P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027655
Gene: ENSMUSG00000026404
AA Change: S477P

DomainStartEndE-ValueType
Pfam:zf-HIT 104 133 5.5e-11 PFAM
DEXDc 222 420 5.43e-55 SMART
HELICc 458 540 1.79e-23 SMART
low complexity region 583 596 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149783
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik A T 13: 98,984,183 F112I probably damaging Het
Akna C T 4: 63,382,479 probably benign Het
AU040320 T C 4: 126,839,676 V663A possibly damaging Het
Cdh13 A G 8: 119,198,958 D355G probably damaging Het
Cdyl2 A G 8: 116,589,244 probably benign Het
Csnk1g3 C T 18: 53,953,288 R422C probably benign Het
D430042O09Rik A T 7: 125,873,476 probably null Het
Dclk1 T A 3: 55,500,099 V233D probably damaging Het
Epb41l1 A T 2: 156,511,828 probably benign Het
Epha2 T C 4: 141,318,524 L453P probably damaging Het
Esco2 T C 14: 65,826,595 H380R probably benign Het
Fbxo38 T C 18: 62,536,227 M51V probably benign Het
Fgb T C 3: 83,043,287 M387V probably damaging Het
Fryl A G 5: 73,075,959 L1522S probably benign Het
Gdf9 T A 11: 53,436,742 M175K probably benign Het
Gm13023 T A 4: 143,792,734 Y22N probably benign Het
Gm20547 C T 17: 34,860,548 D243N probably benign Het
Gramd1b T A 9: 40,315,764 D299V probably damaging Het
Gsg1l G T 7: 125,923,499 Q186K possibly damaging Het
Kcnh5 A G 12: 74,897,652 L941P possibly damaging Het
Lrrc8d A G 5: 105,812,387 D221G possibly damaging Het
Med19 T C 2: 84,685,259 F96L probably damaging Het
Mei1 C A 15: 82,092,711 S589* probably null Het
Myh15 G T 16: 49,116,315 D708Y probably damaging Het
Naca C T 10: 128,043,884 probably benign Het
Olfr1173 A T 2: 88,274,222 Y276N possibly damaging Het
Otog G A 7: 46,300,587 C306Y probably damaging Het
Phldb1 T C 9: 44,696,072 K1279E probably damaging Het
Pkd1 C T 17: 24,579,836 T369I probably damaging Het
Plekha8 A G 6: 54,615,286 S32G probably damaging Het
Sema4g A G 19: 44,996,469 T113A probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T C 10: 59,086,740 M546T probably benign Het
Slc27a5 A G 7: 12,994,951 V328A probably damaging Het
Spef1 T C 2: 131,172,768 N78S probably benign Het
Tln1 T C 4: 43,555,388 T179A probably damaging Het
Tmc5 T C 7: 118,645,324 I475T probably damaging Het
Top2b A G 14: 16,400,488 Y621C probably damaging Het
Ttf1 T C 2: 29,079,426 F727L probably benign Het
Tufm T C 7: 126,489,160 L75P probably damaging Het
Ugt1a2 T A 1: 88,201,074 D146E probably damaging Het
Usp15 G A 10: 123,127,837 T533I probably damaging Het
Vmn1r113 A G 7: 20,787,822 T180A probably benign Het
Vmn1r205 G T 13: 22,592,225 P236T probably damaging Het
Vmn2r112 T G 17: 22,619,032 C825G probably damaging Het
Zfp712 T A 13: 67,042,158 I102F probably damaging Het
Other mutations in Ddx59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02191:Ddx59 APN 1 136417158 missense probably damaging 1.00
IGL02525:Ddx59 APN 1 136417005 missense probably benign 0.03
IGL02712:Ddx59 APN 1 136439781 missense probably benign 0.14
R0219:Ddx59 UTSW 1 136432309 splice site probably benign
R0898:Ddx59 UTSW 1 136416941 missense probably damaging 1.00
R1728:Ddx59 UTSW 1 136417053 missense probably benign
R1729:Ddx59 UTSW 1 136417053 missense probably benign
R1730:Ddx59 UTSW 1 136417053 missense probably benign
R1739:Ddx59 UTSW 1 136417053 missense probably benign
R1762:Ddx59 UTSW 1 136417053 missense probably benign
R1783:Ddx59 UTSW 1 136417053 missense probably benign
R1784:Ddx59 UTSW 1 136417053 missense probably benign
R1785:Ddx59 UTSW 1 136417053 missense probably benign
R1817:Ddx59 UTSW 1 136432507 missense probably damaging 0.98
R1818:Ddx59 UTSW 1 136432507 missense probably damaging 0.98
R1819:Ddx59 UTSW 1 136432507 missense probably damaging 0.98
R2091:Ddx59 UTSW 1 136416709 missense probably benign
R3922:Ddx59 UTSW 1 136416744 missense probably benign
R3923:Ddx59 UTSW 1 136416744 missense probably benign
R3926:Ddx59 UTSW 1 136416744 missense probably benign
R3945:Ddx59 UTSW 1 136434618 missense probably damaging 0.99
R4182:Ddx59 UTSW 1 136439861 missense probably benign 0.01
R4589:Ddx59 UTSW 1 136439742 splice site probably null
R4636:Ddx59 UTSW 1 136432563 missense probably damaging 0.96
R4721:Ddx59 UTSW 1 136417106 missense probably benign 0.00
R5276:Ddx59 UTSW 1 136419448 missense probably damaging 1.00
R6318:Ddx59 UTSW 1 136416872 missense probably damaging 0.99
R7602:Ddx59 UTSW 1 136433821 missense probably benign 0.01
Z1088:Ddx59 UTSW 1 136432451 missense possibly damaging 0.82
Posted On2015-04-16